Angela was born with Phelan McDermid syndrome, a rare genetic disorder (micro-deletion of 22nd chromosome), that results in significant cognitive impairment and most notably a lack of severe delay of speech.
Angela’s mother tells their story:
| My precious daughter Angela has had the odds stacked against her since she was born. I thank God that she was born into our little family; together we have weathered many storms–some big and some small. At 9 months Angela was prescribed physical therapy by her pediatrician because we noticed that she was missing some gross motor milestones. Her doctor observed that she had low muscle tone (hypotonia) and that it was keeping her from progressing like an average child would. Angela walked quite late, but with therapeutic intervention, she did it! We hoped that maybe we would be out of the woods after that achievement, but we were wrong. Our daughter vocalized and babbled constantly, but we noticed that her words were few and inconsistent. Sometimes she even experiences regressions and lost language that she had seemed to master. (These times were heartbreaking.) We sought interventions to try to help move her forward, but still did not know why she her development was lagging behind.
It wasn’t until one day her left eye began to spontaneously drift and we were referred by an ophthalmologist to have her brain scanned for potential tumors that we started to getting answers about her condition. Thankfully there were no tumors, but this episode landed us with a team at Children’s Mercy, where we were encouraged to have genetic testing done that would hopefully give us more answers. And it did: we learned that our little Angel was 1 of about 2,500 people worldwide who have been diagnosed with Phelan McDermid Syndrome. Her condition is probably under-diagnosed and is sometimes mistaken for autism; as a result, little is known about it. Next to cognitive impairment (Angela is 14 years old, but cognitively operates at the level of a 4-5 year old), her greatest obstacle is the terrible difficulty she has with speech. She has A LOT to say,but struggles enormously to be understood.
Her therapists believe that with the proper tools (an AAC device & Speech Apps) that her voice can be unlocked in a way that we have not yet imagined. It’s at their recommendation that I am writing to you today, Variety KC. THANK YOU for taking the time to consider helping to put tools into the hands of our precious little fighter. |
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Because of generous partners and donors, Variety KC is able to help children like Angela right here in our area! The need is greater than we would have ever guessed. If you are able to help, please donate to varietykc.org/donate. Thank you for giving a child a voice!
